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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP7A

Variant:p.A1020delFs

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ATP7A

NM_000052.7:p.A1020delFs

hg38:chrX:78029392 CT>C

Associated Papers

Molecular correlates of epilepsy in early diagnosed and treated Menkes disease.

Kaler SG et al.

Journal of Inherited Metabolic Disease, 2010

20652413 (PubMed )

Neonatal diagnosis and treatment of Menkes disease.

Kaler SG et al.

The New England Journal of Medicine, 2008

18256395 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."